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    IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 134728, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IRAK1BP1provided by HGNC
    Official Full Name
    interleukin 1 receptor associated kinase 1 binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17368
    See related
    Ensembl:ENSG00000146243 MIM:615375; AllianceGenome:HGNC:17368
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AIP70; SIMPL
    Summary
    Predicted to enable signaling adaptor activity. Predicted to be involved in canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.2), thyroid (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IRAK1BP1 in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (78867551..78979411)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (80045247..80113339)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (79577268..79612819)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene microRNA 10524 Neighboring gene NANOG hESC enhancer GRCh37_chr6:79289792-79290318 Neighboring gene uncharacterized LOC107986613 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:79568400-79568966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79577455-79578055 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:79680931-79681480 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:79681481-79682028 Neighboring gene tRNA-Phe (anticodon GAA) 8-1 Neighboring gene uncharacterized LOC124901346 Neighboring gene pleckstrin homology domain interacting protein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:79756655-79757261 Neighboring gene nucleoporin 155kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:79844665-79845165 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:79861851-79862574 Neighboring gene uncharacterized LOC124901347 Neighboring gene MPRA-validated peak5913 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Primary human Muller glia cells treated with both HIV-1 clade B and clade C Tat upregulate the expression of interleukin-1 receptor-associated kinase 1 binding protein 1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39542, MGC138458, MGC138460, 4921528N06Rik

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    interleukin-1 receptor-associated kinase 1-binding protein 1
    Names
    ActA binding protein 3
    IRAK1-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001010844.4 → NP_001010844.1  interleukin-1 receptor-associated kinase 1-binding protein 1

      See identical proteins and their annotated locations for NP_001010844.1

      Status: VALIDATED

      Source sequence(s)
      AL450327, BC112253, CB321683
      Consensus CDS
      CCDS34488.1
      UniProtKB/Swiss-Prot
      Q5VVH5
      Related
      ENSP00000358956.1, ENST00000369940.7
      Conserved Domains (1) summary
      pfam04402
      Location:56 → 197
      SIMPL; Protein of unknown function (DUF541)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      78867551..78979411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418194.1 → XP_047274150.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X4

    2. XM_006715336.4 → XP_006715399.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X1

      Conserved Domains (1) summary
      pfam04402
      Location:56 → 197
      SIMPL; Protein of unknown function (DUF541)

    3. XM_011535448.3 → XP_011533750.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X3

      Conserved Domains (1) summary
      pfam04402
      Location:56 → 112
      SIMPL; Protein of unknown function (DUF541)

    4. XM_011535447.2 → XP_011533749.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X2

      Conserved Domains (1) summary
      pfam04402
      Location:56 → 197
      SIMPL; Protein of unknown function (DUF541)

    5. XM_047418193.1 → XP_047274149.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X5

      Related
      ENSP00000475503.1, ENST00000607739.1

    RNA

    1. XR_942279.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      80045247..80113339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354254.1 → XP_054210229.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X1

    2. XM_054354256.1 → XP_054210231.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X3

    3. XM_054354257.1 → XP_054210232.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X4

    4. XM_054354255.1 → XP_054210230.1  interleukin-1 receptor-associated kinase 1-binding protein 1 isoform X2

    RNA

    1. XR_008487253.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VVH5.1 GenPept UniProtKB/Swiss-Prot:Q5VVH5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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